Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
This study undertook genome-wide homozygosity mapping in 64 consanguineous multiplex families of Syrian descent to discover novel genes causing NS-ARID, and suggests that no major disease gene is to be expected, at least in this study group.
Genotype–phenotype correlation in boys with X‐linked hypohidrotic ectodermal dysplasia
- Kristin Burger, A. Schneider, H. Schneider
- MedicineAmerican Journal of Medical Genetics. Part A
- 1 October 2014
A remarkable genotype–phenotype correlation of skin and hair findings in prepubescent males with XLHED is indicated.
Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study
This first comprehensive study of the course of XLHED in early childhood confirmed the early involvement of multiple organs, pointing to the need of early therapeutic intervention.
Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
Normal development of mouse fetuses with Eda mutations after they had been exposed in utero to a recombinant protein that includes the receptor-binding domain of EDA is observed.
Automatic recognition of the XLHED phenotype from facial images
- S. Hadj-Rabia, H. Schneider, D. Grange
- Medicine, PsychologyAmerican Journal of Medical Genetics. Part A
- 1 September 2017
The automated facial recognition system represents a promising non‐invasive technology to screen patients at all ages for a possible diagnosis of ectodermal dysplasia, with greatest sensitivity and specificity for males affected with XLHED.
Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa
- R. Mittwollen, S. Wohlfart, J. Hammersen
- BiologyJournal of the European Academy of Dermatology…
- 3 March 2020
A lack or dysfunction of the anchoring protein laminin‐332 in the basement membrane leads to the skin blistering disorder junctional epidermolysis bullosa (JEB). The mutation c.628G>A in the gene…
A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia
- S. Wohlfart, S. Söder, A. Smahi, H. Schneider
- BiologyAmerican Journal of Medical Genetics. Part A
- 1 January 2016
A novel missense mutation is described in this gene which did not appear to influence the interaction between EDAR and EDARADD proteins, but led to an impaired ability to activate NF‐κB signaling.
Reliability of prenatal detection of X‐linked hypohidrotic ectodermal dysplasia by tooth germ sonography
Tooth germ sonography is evaluated as a noninvasive means to identify affected fetuses in pregnant carrier women in X‐linked hypohidrotic ectodermal dysplasia.
Sweating ability of patients with p63-associated syndromes
Hypohidrosis in p63-associated syndromes is less common and potentially less severe than previously thought and may be attributable to certain TP63 genotypes.
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
In a cohort of 124 HED patients, genotyping was attempted by Sanger sequencing of EDA, EDA1R, EDARADD, TRAF6 and EDA2R and by multiplex ligation-dependent probe amplification (MLPA), which revealed exon copy-number variations in five unrelated HED families.